MCID: EPL230
MIFTS: 23

Epilepsy with Myoclonic-Atonic Seizures

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy with Myoclonic-Atonic Seizures

MalaCards integrated aliases for Epilepsy with Myoclonic-Atonic Seizures:

Name: Epilepsy with Myoclonic-Atonic Seizures 20
Myoclonic Astatic Epilepsy 20 54 70
Epilepsy with Myoclonic-Astatic Seizures 20
Epilepsy with Myoclono-Astatic Crisis 20
Myoclonic-Astatic Epilepsy 36
Doose Syndrome 20

Classifications:



External Ids:

KEGG 36 H01823
UMLS 70 C0393702

Summaries for Epilepsy with Myoclonic-Atonic Seizures

GARD : 20 Epilepsy with myoclonic-atonic seizures is a rare epilepsy syndrome of early childhood. It is characterized by seizures of many different types, most often myoclonic - atonic, astatic, or generalized tonic-clonic seizures. Seizures can be followed by drop attacks, which can lead to falls and injuries. Absence seizures may occur. People with the condition may experience several seizures each day. The epilepsy may result in a delay or regression of skills. Autistic features and ataxic (poorly controlled) movements have been reported in some cases. Treatment may include valproic acid alone or with other antiepileptic drugs. Ketogenic (high fat, low carb) diet has been successful in some. Long term outlook ranges from persistent seizures that do not respond to treatment and intellectual disability, to complete seizure remission after several years and normal outcome. Changes in the SCN1A, SCN1B, GABRG2, CHD2, and SLC6A1 genes can cause or contribute to epilepsy with myoclonic-atonic seizures. However, in many cases the cause remains unknown. Epilepsy with myoclonic-atonic seizures can be inherited from an affected parent or occur for the first time in a family as a sporadic disease.

MalaCards based summary : Epilepsy with Myoclonic-Atonic Seizures, also known as myoclonic astatic epilepsy, is related to myoclonic-astastic epilepsy and seizure disorder. An important gene associated with Epilepsy with Myoclonic-Atonic Seizures is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1). Related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

KEGG : 36 Myoclonic astatic epilepsy (MAE), also known as Doose syndrome, is a generalized epilepsy syndrome of young children that includes multiple different seizure types, of which myoclonic and astatic seizures were the most prominent. The electro- encephalogram (EEG) tracings may be normal initially, but later develop a characteristic biparietal theta background rhythm, and irregularly generalized spike wave, and polyspike wave discharges. In general, children are developmentally normal before the onset of epilepsy and organic brain abnormalities are absent. Long-term prognosis varies from cessation of seizures with normal developmental outcome to intractable epilepsy with mental retardation. Favorable outcomes were reported in half to two-thirds of cases. Treatment strategies such as corticosteroids, ethosuximide, and valproate have been described as only partially effective, but newer anticonvulsants, such as levetiracetam and zonisamide, may provide additional seizure control. The most effective treatment reported to date appears to be the ketogenic diet.

Wikipedia : 73 Myoclonic astatic epilepsy (MAE), also known as myoclonic atonic epilepsy or Doose syndrome, is a... more...

Related Diseases for Epilepsy with Myoclonic-Atonic Seizures

Diseases related to Epilepsy with Myoclonic-Atonic Seizures via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 myoclonic-astastic epilepsy 31.4 SLC6A1-AS1 SLC6A1 CHD2
2 seizure disorder 30.8 SCN1A CHD2
3 epilepsy 30.7 SLC6A1 SCN1A CHD2
4 encephalopathy 30.4 SCN1A CHD2
5 myoclonic-atonic epilepsy 30.4 SLC6A1-AS1 SLC6A1
6 west syndrome 30.2 SLC6A1 SCN1A
7 epilepsy, myoclonic juvenile 30.1 SLC6A1 SCN1A
8 alacrima, achalasia, and mental retardation syndrome 29.9 SLC6A1 SCN1A CHD2
9 lennox-gastaut syndrome 29.8 SLC6A1 SCN1A CHD2
10 epilepsy, idiopathic generalized 29.7 SLC6A1 SCN1A
11 autism spectrum disorder 29.7 SLC6A1 SCN1A CHD2
12 benign epilepsy with centrotemporal spikes 29.6 SLC6A1 SCN1A CHD2
13 dravet syndrome 29.6 SLC6A1 SCN1A CHD2
14 glut1 deficiency syndrome 1 10.3
15 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
16 encephalitis 10.3
17 glucose transporter type 1 deficiency syndrome 10.3
18 inherited metabolic disorder 10.2
19 ring chromosome 20 10.2
20 ring chromosome 10.2
21 attention deficit-hyperactivity disorder 10.2
22 ataxia and polyneuropathy, adult-onset 10.2
23 status epilepticus 10.2
24 early myoclonic encephalopathy 10.2
25 chd2-related neurodevelopmental disorders 10.2
26 myoclonus 10.2
27 sturge-weber syndrome 10.1
28 type 1 diabetes mellitus 10.1
29 subacute sclerosing panencephalitis 10.1
30 nicolaides-baraitser syndrome 10.1
31 diabetes mellitus, ketosis-prone 10.1
32 epilepsy, idiopathic generalized 12 10.1
33 generalized epilepsy with febrile seizures plus, type 9 10.1
34 early onset absence epilepsy 10.1
35 limbic encephalitis 10.1
36 movement disease 10.1
37 epilepsy with generalized tonic-clonic seizures 10.1
38 measles 10.1
39 diabetes mellitus 10.1
40 pseudobulbar affect 10.1
41 weber syndrome 10.1
42 febrile seizures 10.1
43 migraine, familial hemiplegic, 1 9.9 SLC6A1 SCN1A
44 childhood electroclinical syndrome 9.9 SLC6A1 SCN1A
45 generalized epilepsy with febrile seizures plus 9.9
46 focal epilepsy 9.9
47 bap1 tumor predisposition syndrome 9.9
48 genetic epilepsy with febrile seizures plus 9.9
49 myoclonic epilepsy of infancy 9.9
50 childhood absence epilepsy 9.9 SLC6A1 SCN1A

Graphical network of the top 20 diseases related to Epilepsy with Myoclonic-Atonic Seizures:



Diseases related to Epilepsy with Myoclonic-Atonic Seizures

Symptoms & Phenotypes for Epilepsy with Myoclonic-Atonic Seizures

GenomeRNAi Phenotypes related to Epilepsy with Myoclonic-Atonic Seizures according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-128 9.65 CHD2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-176 9.65 CHD2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-186 9.65 SCN1A
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 9.65 CHD2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.65 SCN1A
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 9.65 CHD2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.65 SCN1A
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 9.65 CHD2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-62 9.65 SCN1A
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-99 9.65 SCN1A
11 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-1 9.23 SCN1A SLC6A1
12 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-2 9.23 SCN1A SLC6A1

Drugs & Therapeutics for Epilepsy with Myoclonic-Atonic Seizures

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Becoming of Children With Doose Syndrome Not yet recruiting NCT04048213

Search NIH Clinical Center for Epilepsy with Myoclonic-Atonic Seizures

Genetic Tests for Epilepsy with Myoclonic-Atonic Seizures

Anatomical Context for Epilepsy with Myoclonic-Atonic Seizures

Publications for Epilepsy with Myoclonic-Atonic Seizures

Articles related to Epilepsy with Myoclonic-Atonic Seizures:

(show top 50) (show all 163)
# Title Authors PMID Year
1
SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures. 54 61
15944908 2005
2
Results of an international Delphi consensus in epilepsy with myoclonic atonic seizures/ Doose syndrome. 61
33383403 2021
3
Epilepsy with myoclonic-atonic seizures (Doose syndrome): Clarification of diagnosis and treatment options through a large retrospective multicenter cohort. 61
33190223 2021
4
STX1B-related epilepsy in a 24-month-old female infant. 61
33426515 2021
5
Clinical and genetic characteristics of patients with Doose syndrome. 61
32913952 2020
6
CHD2-related epilepsy: novel mutations and new phenotypes. 61
31677157 2020
7
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures. 61
32469098 2020
8
Current knowledge of SLC6A1-related neurodevelopmental disorders. 61
33241211 2020
9
Dissecting the phenotypic and genetic spectrum of early childhood-onset generalized epilepsies. 61
31401500 2019
10
Gene mutations in paediatric epilepsies cause NMDA-pathy, and phasic and tonic GABA-pathy. 61
30680721 2019
11
SVD Square-root Iterated Extended Kalman Filter for Modeling of Epileptic Seizure Count Time Series with External Inputs. 61
31945973 2019
12
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. 61
31104773 2019
13
How often is antiseizure drug-free ketogenic diet therapy achieved? 61
30831398 2019
14
SYNGAP1-Related Intellectual Disability 61
30789692 2019
15
Genetic testing in a cohort of patients with potential epilepsy with myoclonic-atonic seizures. 61
30660939 2019
16
The glucose transporter type 1 (Glut1) syndromes. 61
30076047 2019
17
Adolescent-onset absence epilepsy years after resolution of childhood epilepsy with myoclonic-atonic seizures. 61
31388667 2019
18
Diagnosis switching and outcomes in a cohort of patients with potential epilepsy with myoclonic-atonic seizures. 61
30286391 2018
19
NBEA: Developmental disease gene with early generalized epilepsy phenotypes. 61
30269351 2018
20
How do we diagnose and treat epilepsy with myoclonic-atonic seizures (Doose syndrome)? Results of the Pediatric Epilepsy Research Consortium survey. 61
29729532 2018
21
Analysis of the effects of medication for the treatment of epilepsy by ensemble Iterative Extended Kalman filtering. 61
30440369 2018
22
Successful corpus callosotomy for Doose syndrome. 61
28673533 2017
23
Modified Atkins diet is an effective treatment for children with Doose syndrome. 61
28229464 2017
24
A case of fulminant subacute sclerosing panencephalitis presenting with acute myoclonic-astatic epilepsy. 61
28617265 2017
25
Epilepsy with myoclonic atonic seizures and chronic cerebellar symptoms associated with antibodies against glutamate receptors N2B and D2 in serum and cerebrospinal fluid. 61
28246062 2017
26
Ketogenic Diets in the Treatment of Epilepsy. 61
28799513 2017
27
New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy. 61
27665729 2017
28
Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. 61
28053010 2017
29
SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures. 61
27600546 2016
30
Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia. 61
27648472 2016
31
The changing face of dietary therapy for epilepsy. 61
27586246 2016
32
Epileptic spasms in epilepsy with myoclonic-atonic seizures (Doose syndrome). 61
27506632 2016
33
Late-onset periodic bradycardia during vagus nerve stimulation in a pediatric patient. A new case and review of the literature. 61
27056279 2016
34
Tonic Seizure Status Epilepticus Triggered by Valproate in a Child with Doose Syndrome. 61
26979444 2016
35
Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy. 61
26818399 2016
36
Non-pharmacological medical treatment in pediatric epilepsies. 61
26993568 2016
37
Multiplex families with epilepsy: Success of clinical and molecular genetic characterization. 61
26802095 2016
38
Does Autoimmunity have a Role in Myoclonic Astatic Epilepsy? A Case Report of Voltage Gated Potassium Channel Mediated Seizures. 61
29308451 2016
39
Epilepsy with myoclonic-atonic seizures (Doose syndrome): When video-EEG polygraphy holds the key to syndrome diagnosis. 61
26958468 2016
40
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. 61
26537434 2015
41
CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures. 61
26262932 2015
42
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. 61
25865495 2015
43
When should clinicians search for GLUT1 deficiency syndrome in childhood generalized epilepsies? 61
25532859 2015
44
Paradoxical exacerbation of myoclonic-astatic seizures by levetiracetam in myoclonic astatic epilepsy. 61
25884503 2015
45
High-fat diets and seizure control in myoclonic-astatic epilepsy: a single center's experience. 61
25455059 2015
46
MYOCLONIC ASTATIC EPILEPSY IN A PATIENT WITH A DE NOVO 4q21.22q21.23 MICRODUPLICATION. 61
26625664 2015
47
Study of epileptic drop attacks in symptomatic epilepsy of early childhood - differences from those in myoclonic-astatic epilepsy. 61
24731746 2015
48
Efficacy and tolerability of methylprednisolone pulse therapy in childhood epilepsies other than infantile spasms. 61
25184741 2014
49
Three siblings with multiform seizures: An unusual presentation of Doose syndrome. 61
26133327 2014
50
Genetic epilepsies with febrile seizures plus: clinical spectrum of Polish patients with SCN1A mutation - preliminary report. 61
25874779 2014

Variations for Epilepsy with Myoclonic-Atonic Seizures

Copy number variations for Epilepsy with Myoclonic-Atonic Seizures from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 33171 1 43163632 43197434 Amplification SLC2A1 Myoclonic Astatic Epilepsy

Expression for Epilepsy with Myoclonic-Atonic Seizures

Search GEO for disease gene expression data for Epilepsy with Myoclonic-Atonic Seizures.

Pathways for Epilepsy with Myoclonic-Atonic Seizures

GO Terms for Epilepsy with Myoclonic-Atonic Seizures

Biological processes related to Epilepsy with Myoclonic-Atonic Seizures according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sodium ion transmembrane transport GO:0035725 8.62 SLC6A1 SCN1A

Sources for Epilepsy with Myoclonic-Atonic Seizures

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